APPLICATION OF AN AUTOMATED HEXOSAMINIDASE ASSAY TO GENETIC SCREENING

被引：28

作者：

DELVIN, E

POTTIER, A

SCRIVER, CR

GOLD, RJM

机构：

[1] MCGILL UNIV,MONTREAL CHILDRENS HOSP,RES INST,DEBELLE LAB BIOCHEM GENET,2300 TUPPER ST,MONTREAL H3H 1P3,QUEBEC,CANADA

[2] SHRINERS HOSP,LYSOSOMAL ENZYME DIAG UNIT,1529 CEDAR AVE,MONTREAL,QUEBEC,CANADA

来源：

CLINICA CHIMICA ACTA | 1974年 / 53卷 / 01期

关键词：

D O I：

10.1016/0009-8981(74)90361-1

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：135 / 142

页数：8

共 9 条

[1]

DELVIN EE, 1972, UNION MED CAN, V101, P683

[2]

GOLD RJM, 1973, ANN HUM GENET, V37, P315

[3] ON A BIOCHEMICALLY SPECIAL FORM OF INFANTILE AMAUROTIC IDIOCY [J].

JATZKEWITZ, H ;

SANDHOFF, K .

BIOCHIMICA ET BIOPHYSICA ACTA, 1963, 70 (03) :354-&

[4] STUDIES ON GLUCOSAMINIDASE .4. FLUORIMETRIC ASSAY OF N-ACETYL-BETA-GLUCOSAMINIDASE [J].

LEABACK, DH ;

WALKER, PG .

BIOCHEMICAL JOURNAL, 1961, 78 (01) :151-&

[5]

MYRIANTHOPOULOS NC, 1962, CEREBRAL LIPIDOSIS

[6] TAY-SACHS DISEASE - DETECTION OF HETEROZYGOTES AND HOMOZYGOTES BY SERUM HEXOSAMINIDASE ASSAY [J].

OBRIEN, JS ;

OKADA, S ;

CHEN, A ;

FILLERUP, DL .

NEW ENGLAND JOURNAL OF MEDICINE, 1970, 283 (01) :15-&

[7] TAY-SACHS DISEASE - GENERALIZED ABSENCE OF A BETA-D-N-ACEYLHEXOSAMINIDASE COMPONENT [J].

OKADA, S ;

OBRIEN, JS .

SCIENCE, 1969, 165 (3894) :698-&

[8] N-ACETYL-BETA-GLUCOSAMINIDASES IN HUMAN SPLEEN [J].

ROBINSON, D ;

STIRLING, JL .

BIOCHEMICAL JOURNAL, 1968, 107 (03) :321-&

[9]

SCRIVER CR, 1968, NATURE, V218, P677

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